Works matching DE "GONADAL dysgenesis"
Results: 530
How does Hedgehog signaling participate in the cross-interaction of hormones and testis development?
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- Biocell, 2025, v. 49, n. 1, p. 93, doi. 10.32604/biocell.2024.058299
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- Publication type:
- Article
Rapid progression to Richter's syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 5, p. 454, doi. 10.2298/VSP211111060D
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- Publication type:
- Article
Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 445, doi. 10.2350/11-01-0960-OA.1
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- Publication type:
- Article
Interaction of chronic pain, obesity and time of day on cortisol in female human adolescents.
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- Stress: The International Journal on the Biology of Stress, 2022, v. 25, n. 1, p. 331, doi. 10.1080/10253890.2022.2142778
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- Publication type:
- Article
A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate.
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- Child's Nervous System, 2021, v. 37, n. 1, p. 329, doi. 10.1007/s00381-020-04639-x
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- Publication type:
- Article
Do junctional neural tube defect and segmental spinal dysgenesis have the same pathoembryological background?
- Published in:
- 2020
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- Publication type:
- Letter
Do junctional neural tube defect and segmental spinal dysgenesis have the same pathoembryological background?
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- Child's Nervous System, 2020, v. 36, n. 2, p. 241, doi. 10.1007/s00381-019-04425-4
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- Publication type:
- Article
Menopause: a trigger for simultaneous development of ulcerative colitis in sigmoid neovagina and residual colorectum?
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- Minerva Obstetrics & Gynecology, 2024, v. 76, n. 3, p. 293, doi. 10.23736/S2724-606X.23.05224-7
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- Publication type:
- Article
Strigea robusta (Digenea: Strigeidae) infection effects on the gonadal structure and limb malformation in toad early development.
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- Journal of Experimental Zoology: Part A Ecological & Integrative Physiology, 2022, v. 337, n. 6, p. 675, doi. 10.1002/jez.2599
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- Publication type:
- Article
SWYER SYNDROME WITH A GERM CELL TUMOUR.
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- Journal of Medical Sciences (1997-3438), 2021, v. 29, n. 4, p. 295
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- Publication type:
- Article
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
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- Japanese Journal of Ophthalmology, 2020, v. 64, n. 2, p. 134, doi. 10.1007/s10384-020-00715-6
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- Publication type:
- Article
A-266 Neuropsychological Profile of a 5-Year-Old Boy with Gould Syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
The Body Discourse and Dystopian Identity Narratives of Women with Turner Syndrome..
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- Problems of Literary Genres / Zagadnienia Rodzajów Literackich, 2020, v. 63, n. 1, p. 62, doi. 10.26485/ZRL/2020/63.1/5
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- Publication type:
- Article
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.954288
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- Publication type:
- Article
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.900574
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- Publication type:
- Article
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.954288
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- Publication type:
- Article
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.885589
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- Publication type:
- Article
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.871328
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- Publication type:
- Article
MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.736988
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- Publication type:
- Article
Hypertrophic scars in a patient with Turner's syndrome treated with recombinant growth hormone.
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- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2014, v. 31, n. 2, p. 117, doi. 10.5114/pdia.2014.40917
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- Publication type:
- Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
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- Publication type:
- Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
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- Publication type:
- Article
Implicating factors in the increase in cases of central precocious puberty (CPP) during the COVID-19 pandemic: Experience of a tertiary centre of pediatric endocrinology and review of the literature.
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- Frontiers in Endocrinology, 2022, v. 13, p. 01, doi. 10.3389/fendo.2022.1032914
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- Publication type:
- Article
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.989447
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- Publication type:
- Article
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.957969
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- Publication type:
- Article
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.897069
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- Publication type:
- Article
Critical Roles of the Circadian Transcription Factor BMAL1 in Reproductive Endocrinology and Fertility.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.818272
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- Publication type:
- Article
Reproductive impairment and intersexuality in Gomphina veneriformis (Bivalvia: Veneridae) by the tributyltin compound.
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- Animal Cells & Systems, 2015, v. 19, n. 1, p. 61, doi. 10.1080/19768354.2014.995225
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- Publication type:
- Article
Mixed Gonadal Dysgenesis with 45,X/46,X,idic(Y)/46,XY Karyotype: A Case Report.
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- Journal of Reproduction & Infertility, 2024, v. 25, n. 1, p. 72, doi. 10.18502/jri.v25i1.15203
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- Publication type:
- Article
A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.
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- International Journal of Pediatric Endocrinology, 2016, v. 2016, p. 1, doi. 10.1186/s13633-016-0029-3
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- Publication type:
- Article
Whole-Organ Isolation Approach as a Basis for Tissue-Specific Analyses in Schistosoma mansoni.
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- PLoS Neglected Tropical Diseases, 2013, v. 7, n. 7, p. 1, doi. 10.1371/journal.pntd.0002336
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- Publication type:
- Article
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea.
- Published in:
- 2017
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- Publication type:
- Case Study
Correspondence Between Gonadal Steroid Hormone Concentrations and Secondary Sexual Characteristics Assessed by Clinicians, Adolescents, and Parents.
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- Journal of Research on Adolescence (Wiley-Blackwell), 2012, v. 22, n. 2, p. 381, doi. 10.1111/j.1532-7795.2011.00773.x
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- Article
Invited Speakers Abstracts.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2018, v. 40, p. S35
- Publication type:
- Article
Mosaic Isodicentric Y Chromosome in a Patient with Mixed Gonadal Dysgenesis.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2014, v. 36, n. 4, p. 177, doi. 10.5152/etd.2014.5663
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- Publication type:
- Article
A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor.
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- Iranian Journal of Radiology, 2022, v. 19, n. 3, p. 1, doi. 10.5812/iranjradiol-119646
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- Publication type:
- Article
A Case of Non-Seminomatous Germ Cell Tumor Complicated by Tumor Thrombus in an Active Duty Soldier.
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- Military Medicine, 2024, v. 189, n. 7/8, p. e1835, doi. 10.1093/milmed/usae174
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- Publication type:
- Article
Rare health conditions 8: Smith-Magenis syndrome, anorchia and Harlequins ichthyosis.
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- British Journal of Healthcare Assistants, 2018, v. 12, n. 1, p. 10, doi. 10.12968/bjha.2018.12.1.10
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- Publication type:
- Article
Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment.
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- Endocrine Reviews, 2022, v. 43, n. 5, p. 878, doi. 10.1210/endrev/bnab047
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- Publication type:
- Article
45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.
- Published in:
- 2018
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- Publication type:
- journal article
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
- Published in:
- 2016
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- Publication type:
- journal article
Hepatoid Carcinoma of the Ovary: Clinical, Histopathologic, and Immunophenotypic Features.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2019, v. 143, n. 7, p. 883, doi. 10.5858/arpa.2017-0485-RS
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- Publication type:
- Article
Variedad de la presentación citogenética en el síndrome de Turner, prenatal y postnatal.
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- Revista Chilena de Obstetricia y Ginecología, 2014, v. 79, n. 4, p. 277, doi. 10.4067/S0717-75262014000400005
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- Publication type:
- Article
Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.
- Published in:
- Reproductive Biology & Endocrinology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12958-024-01309-4
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- Publication type:
- Article
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
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- Reproductive Biology & Endocrinology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12958-022-01045-7
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- Publication type:
- Article
P element activity and molecular structure in Drosophila melanogaster populations from Firtina Valley, Turkey.
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- Journal of Insect Science, 2014, v. 14, p. 1, doi. 10.1673/031.014.16
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- Publication type:
- Article
Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature.
- Published in:
- BMC Women's Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12905-023-02698-1
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- Publication type:
- Article
Vertical cephalometric characteristics in different populations with Turner syndrome as compared to non‐syndromic populations: A meta‐analysis.
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- Special Care in Dentistry, 2024, v. 44, n. 4, p. 961, doi. 10.1111/scd.12966
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- Publication type:
- Article
Mode of delivery of women with Swyer syndrome in a German case series.
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- Journal of Perinatal Medicine, 2021, v. 49, n. 6, p. 725, doi. 10.1515/jpm-2020-0562
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- Publication type:
- Article
Causes of primary and secondary amenorrhoea.
- Published in:
- 2012
- By:
- Publication type:
- Case Study